Combined B and T cell defect
Gene: RFXAPEllen McDonagh (Genomics England Curator), 6 Jun 2016. PMID: 9118943 - isolation of the gene as a component of the RFX complex. Showed that the gene was mutated in a cell line and an MHC-II deficiency patient
PMID: 9287230 - Two homozygous variants in the RFXAP gene were identified in 3 cell lines from 3 unrelated patients with primary MHC class II deficiency (Turkish, Moroccan, Algerian). Transfection of RFXAP restored expression of MHC class II molecules in the patients' cells
PMID: 22390233 - a homozygous variant casusing a premature stop codon in the RFXAP gene was found in the RFXAP gene in a 6 month old girl with Type III Bare lymphocyte syndrome
PMID: 20197681 - RFXAP deficiency in a patient reported to be due to a homozygous p.Ser123ThrfsX15 variant in RFXAP
PMID: 18336911 - patient with MHC-II deficiency, lacked RFXAP mRNA expression. Homozygous 75bp insertion in the 5'UTR was identified, impairing transcription. PMID:12498778 - a homozygous premature stop codon variant was identified in the RFXAP gene in a patient from whom primary cell MHCII molecule cell surface expression was corrected using a RFXAP vector
PMID: 9806639 - functional evidence for the importance of the RFX protein complex.
Created: 29 Mar 2018, 12:07 p.m.
Comment on list classification: The gene was added by expert review, and rated green. Multiple cases, with different variants, reported with functional importance of a role in the RFX protein complex.Created: 6 Jun 2016, 1:47 p.m.
Publications for RFXAP were set to 9118943; 9287230; 22390233; 20197681; 18336911; 12498778; 9806639
This gene has been classified as Green List (High Evidence).
Publications for RFXAP were set to PMID: 9118943 - isolation of the gene as a component of the RFX complex. Showed that the gene was mutated in a cell line and an MHC-II deficiency patient; PMID: 9287230 - Two homozygous variants in the RFXAP gene were identified in 3 cell lines from 3 unrelated patients with primary MHC class II deficiency (Turkish, Moroccan, Algerian). Transfection of RFXAP restored expression of MHC class II molecules in the patients' cells; PMID: 22390233 - a homozygous variant casusing a premature stop codon in the RFXAP gene was found in the RFXAP gene in a 6 month old girl with Type III Bare lymphocyte syndrome; PMID: 20197681 - RFXAP deficiency in a patient reported to be due to a homozygous p.Ser123ThrfsX15 variant in RFXAP; PMID: 18336911 - patient with MHC-II deficiency, lacked RFXAP mRNA expression. Homozygous 75bp insertion in the 5'UTR was identified, impairing transcription. PMID:12498778 - a homozygous premature stop codon variant was identified in the RFXAP gene in a patient from whom primary cell MHCII molecule cell surface expression was corrected using a RFXAP vector; PMID: 9806639 - functional evidence for the importance of the RFX protein complex.
This gene has been classified as Green List (High Evidence).
Publications for RFXAP were set to PMID: 9118943 - isolation of the gene as a component of the RFX complex. Showed that the gene was mutated in a cell line and an MHC-II deficiency patient; PMID: 9287230 - Two homozygous variants in the RFXAP gene were identified in 3 cell lines from 3 unrelated patients with primary MHC class II deficiency (Turkish, Moroccan, Algerian). Transfection of RFXAP restored expression of MHC class II molecules in the patients' cells; PMID: 22390233 - a homozygous variant casusing a premature stop codon in the RFXAP gene was found in the RFXAP gene in a 6 month old girl with Type III Bare lymphocyte syndrome; PMID: 20197681 - RFXAP deficiency in a patient reported to be due to a homozygous p.Ser123ThrfsX15 variant in RFXAP; PMID: 18336911 - patient with MHC-II deficiency, lacked RFXAP mRNA expression. Homozygous 75bp insertion in the 5'UTR was identified, impairing transcription. PMID:12498778 - homozygous variant identified in the RFXAP gene in a patient from whom primary cells were corrected using a RFXAP vector; PMID: 9806639 - functional evidence for the importance of the RFX protein complex.
Publications for RFXAP were set to PMID: 9118943 - isolation of the gene as a component of the RFX complex. Showed that the gene was mutated in a cell line and an MHC-II deficiency patient; PMID: 9287230 - Two homozygous variants in the RFXAP gene were identified in 3 cell lines from 3 unrelated patients with primary MHC class II deficiency (Turkish, Moroccan, Algerian). Transfection of RFXAP restored expression of MHC class II molecules in the patients' cells; PMID: 22390233 - case with Type III Bare lymphocyte syndrome lacking RFXAP expression, with a premature stop codon in this gene; PMID: 20197681 - RFXAP deficiency in a patient reported to be due to a homozygous p.Ser123ThrfsX15 variant in RFXAP; PMID: 18336911 - patient with MHC-II deficiency, lacked RFXAP mRNA expression. Homozygous 75bp insertion in the 5'UTR was identified, impairing transcription. PMID:12498778 - homozygous variant identified in the RFXAP gene in a patient from whom primary cells were corrected using a RFXAP vector; PMID: 9806639 - functional evidence for the importance of the RFX protein complex.
Publications for RFXAP were set to PMID: 9118943 - isolation of the gene as a component of the RFX complex. Showed that the gene was mutated in a cell line and an MHC-II deficiency patient; PMID: 9287230 - variants in the RFXAP gene identified in 3 unrelated patients with primary MHC class II deficiency. Transfection of RFXAP restored expression of MHC class II molecules in the patients' cells; PMID: 22390233 - case with Type III Bare lymphocyte syndrome lacking RFXAP expression, with a premature stop codon in this gene; PMID: 20197681 - RFXAP deficiency in a patient reported to be due to a homozygous p.Ser123ThrfsX15 variant in RFXAP; PMID: 18336911 - patient with MHC-II deficiency, lacked RFXAP mRNA expression. Homozygous 75bp insertion in the 5'UTR was identified, impairing transcription. PMID:12498778 - homozygous variant identified in the RFXAP gene in a patient from whom primary cells were corrected using a RFXAP vector; PMID: 9806639 - functional evidence for the importance of the RFX protein complex.
Publications for RFXAP were set to PMID: 9118943; PMID: 9287230; PMID: 22390233 - case with Type III Bare lymphocyte syndrome lacking RFXAP expression, with a premature stop codon in this gene; PMID: 20197681 - RFXAP deficiency in a patient reported to be due to a homozygous p.Ser123ThrfsX15 variant in RFXAP; PMID: 18336911 - patient with MHC-II deficiency, lacked RFXAP mRNA expression. Homozygous 75bp insertion in the 5'UTR was identified, impairing transcription. PMID:12498778 - homozygous variant identified in the RFXAP gene in a patient from whom primary cells were corrected using a RFXAP vector;
Publications for RFXAP were set to PMID: 9118943; PMID: 9287230; PMID: 22390233 - case with Type III Bare lymphocyte syndrome lacking RFXAP expression, with a premature stop codon in this gene; PMID: 20197681 - RFXAP deficiency in a patient reported to be due to a homozygous p.Ser123ThrfsX15 variant in RFXAP; PMID: 18336911 - patient with MHC-II deficiency, lacked RFXAP mRNA expression. Homozygous 75bp insertion in the 5'UTR was identified, impairing transcription. PMID:12498778 - homozygous variant identified in the RFXAP gene in a patient from whom primary cells were corrected using a RFXAP vector; PMID: 10825209 The regulatory factor complex of RFXANK(B), RFXP, RFX5.
Publications for RFXAP were set to 9118943; 9287230; PMID: 22390233 - case with Type III Bare lymphocyte syndrome lacking RFXAP expression, with a premature stop codon in this gene; PMID: 20197681 - RFXAP deficiency in a patient reported to be due to a homozygous p.Ser123ThrfsX15 variant in RFXAP; PMID: 18336911 - patient with MHC-II deficiency, lacked RFXAP mRNA expression. Homozygous 75bp insertion in the 5'UTR was identified, impairing transcription.
Publications for RFXAP were set to 9118943; 9287230; 22390233
RFXAP was added to Combined B and T cell defectpanel. Sources: Literature,Expert list,Expert Review